Canonical Allele Identifier: CA345406688

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237934139T>G (hg19) ; chr1:g.237770839T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770839T>G , CM000663.2:g.237770839T>G	GRCh38
NC_000001.10:g.237934139T>G , CM000663.1:g.237934139T>G	GRCh37
NC_000001.9:g.236000762T>G	NCBI36
NG_008799.2:g.733438T>G
NG_008799.3:g.733656T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*2601T>G	ENSP00000499659.2:n.*2601T>G
ENST00000659194.3:c.11497T>G	ENSP00000499653.3:p.Cys3833Gly
ENST00000660292.2:c.11530T>G	ENSP00000499787.2:p.Cys3844Gly
ENST00000659194.2:c.3686T>G
ENST00000366574.7:c.11509T>G MANE Select	ENSP00000355533.2:p.Cys3837Gly
ENST00000659194.1:c.3686T>G
ENST00000660292.1:c.1562T>G
ENST00000360064.7:c.11461T>G	ENSP00000353174.7:p.Cys3821Gly
ENST00000366574.6:c.11509T>G	ENSP00000355533.2:p.Cys3837Gly
ENST00000609119.1:n.2704T>G
NM_001035.2:c.11509T>G	NP_001026.2:p.Cys3837Gly
XM_006711802.2:c.11563T>G	XP_006711865.1:p.Cys3855Gly
XM_006711803.2:c.11560T>G	XP_006711866.1:p.Cys3854Gly
XM_006711804.2:c.11539T>G	XP_006711867.1:p.Cys3847Gly
XM_006711805.2:c.11533T>G	XP_006711868.1:p.Cys3845Gly
XM_006711806.2:c.11527T>G	XP_006711869.1:p.Cys3843Gly
XM_006711807.2:c.11503T>G	XP_006711870.1:p.Cys3835Gly
XM_006711808.2:c.11326T>G	XP_006711871.1:p.Cys3776Gly
XM_006711810.2:c.11470T>G	XP_006711873.1:p.Cys3824Gly
XM_006711802.3:c.11563T>G	XP_006711865.1:p.Cys3855Gly
XM_006711803.3:c.11560T>G	XP_006711866.1:p.Cys3854Gly
XM_006711804.3:c.11539T>G	XP_006711867.1:p.Cys3847Gly
XM_006711805.3:c.11533T>G	XP_006711868.1:p.Cys3845Gly
XM_006711806.3:c.11527T>G	XP_006711869.1:p.Cys3843Gly
XM_006711807.3:c.11503T>G	XP_006711870.1:p.Cys3835Gly
XM_006711808.3:c.11326T>G	XP_006711871.1:p.Cys3776Gly
XM_006711810.3:c.11470T>G	XP_006711873.1:p.Cys3824Gly
XM_017002028.1:c.11542T>G	XP_016857517.1:p.Cys3848Gly
NM_001035.3:c.11509T>G MANE Select	NP_001026.2:p.Cys3837Gly